rs4149056 a variant in the SLCO1B1 gene

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs4149056 is the catalogue number of one of them, in the SLCO1B1 gene. Which letters you carry there — one copy from each parent — is your genotype.

SLCO1B1 (solute carrier organic anion transporter family member 1B1): This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4.

Gene description from NCBI Gene

Why might it matter?

ClinVar records this variant as drug response, meaning linked to how the body handles certain medicines. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• Rotor syndrome
• simvastatin acid response - Metabolism/PK
• Gilbert syndrome
• rosuvastatin response - Metabolism/PK
• simvastatin response - Toxicity
• hmg coa reductase inhibitors response - Toxicity
• atorvastatin response - Toxicity
• atorvastatin response - Metabolism/PK
• fluvastatin response - Metabolism/PK
• fluvastatin response - Toxicity
• lovastatin acid response - Metabolism/PK
• simvastatin response - Metabolism/PK

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Medicines

Never start, stop or change a medicine because of a genetic result without speaking to the prescriber.

Do I have this variant?

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID

rs4149056

Gene

SLCO1B1

Position (GRCh38)

chr12:21178614

Variant type

snv

Consequence

missense variant

ClinVar classification

drug response

Genome-wide association studies (20)

How common the less frequent letter is

gnomAD ALL

14.5%

1kG AFR

98.6%

1kG ALL

8.8%

1kG AMR

86.6%

1kG EAS

87.7%

1kG EUR

16.1%

1kG SAS

4.3%

Sources

• dbSNP: rs4149056 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: SLCO1B1
• Ensembl: SLCO1B1
• GWAS Catalog — association studies

Related

Other variants in SLCO1B1

• rs71581941
• rs183501729
• rs71581991
• rs76647672
• rs79135870
• rs763873797
• rs200994482

• The SLCO1B1 gene
• SNP explorer
• Gene directory
• Health conditions